An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation

Seiji Yamada, Sumihito Nobusawa, Tatsuya Yamazaki, Takao Teranishi, Sadayoshi Watanabe, Kazuhiro Murayama, Shigeo Ohba, Asako Okabe, Kouhei Sakurai, Makoto Urano, Tetsuya Tsukamoto, Hideaki Yokoo, Yuichi Hirose, Masato Abe

研究成果: Article

抄録

Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low-grade gliomas. We report a case of GNT with rosette-forming glioneuronal tumor, dysembryoplastic neuroepithelial tumor, and pilocytic astrocytoma-like morphology harboring FGFR1 mutation. A 16-year-old female presented with absence seizures. Magnetic resonance imaging revealed a right temporal lobe mass with multinodular enhancement by gadolinium administration. The tumor was mostly composed of oligodendrocyte-like cells (OLCs) with variable perinuclear haloes. Abundant Rosenthal fibers and eosinophilic granular bodies were identified. Neither mitotic figures nor areas of necrosis were seen. Focal neurocytic rosette features, involving ring-like arrays of OLCs around eosinophilic cores, were observed. Direct sequencing showed a missense mutation in FGFR1 K656E, whereas FGFR1 N546K, PIK3CA, and BRAF V600E were intact. KIAA1549-BRAF fusion was not detected by fluorescence in situ hybridization analysis.

元の言語English
ページ(範囲)372-377
ページ数6
ジャーナルPathology International
69
発行部数6
DOI
出版物ステータスPublished - 01-01-2019

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Epilepsy
Mutation
Oligodendroglia
Neoplasms
Neuroepithelial Neoplasms
Absence Epilepsy
Central Nervous System Neoplasms
Astrocytoma
Gadolinium
Missense Mutation
Temporal Lobe
Fluorescence In Situ Hybridization
Glioma
Neuroglia
Necrosis
Magnetic Resonance Imaging

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

これを引用

Yamada, S., Nobusawa, S., Yamazaki, T., Teranishi, T., Watanabe, S., Murayama, K., ... Abe, M. (2019). An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation. Pathology International, 69(6), 372-377. https://doi.org/10.1111/pin.12799
Yamada, Seiji ; Nobusawa, Sumihito ; Yamazaki, Tatsuya ; Teranishi, Takao ; Watanabe, Sadayoshi ; Murayama, Kazuhiro ; Ohba, Shigeo ; Okabe, Asako ; Sakurai, Kouhei ; Urano, Makoto ; Tsukamoto, Tetsuya ; Yokoo, Hideaki ; Hirose, Yuichi ; Abe, Masato. / An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation. :: Pathology International. 2019 ; 巻 69, 番号 6. pp. 372-377.
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abstract = "Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low-grade gliomas. We report a case of GNT with rosette-forming glioneuronal tumor, dysembryoplastic neuroepithelial tumor, and pilocytic astrocytoma-like morphology harboring FGFR1 mutation. A 16-year-old female presented with absence seizures. Magnetic resonance imaging revealed a right temporal lobe mass with multinodular enhancement by gadolinium administration. The tumor was mostly composed of oligodendrocyte-like cells (OLCs) with variable perinuclear haloes. Abundant Rosenthal fibers and eosinophilic granular bodies were identified. Neither mitotic figures nor areas of necrosis were seen. Focal neurocytic rosette features, involving ring-like arrays of OLCs around eosinophilic cores, were observed. Direct sequencing showed a missense mutation in FGFR1 K656E, whereas FGFR1 N546K, PIK3CA, and BRAF V600E were intact. KIAA1549-BRAF fusion was not detected by fluorescence in situ hybridization analysis.",
author = "Seiji Yamada and Sumihito Nobusawa and Tatsuya Yamazaki and Takao Teranishi and Sadayoshi Watanabe and Kazuhiro Murayama and Shigeo Ohba and Asako Okabe and Kouhei Sakurai and Makoto Urano and Tetsuya Tsukamoto and Hideaki Yokoo and Yuichi Hirose and Masato Abe",
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Yamada, S, Nobusawa, S, Yamazaki, T, Teranishi, T, Watanabe, S, Murayama, K, Ohba, S, Okabe, A, Sakurai, K, Urano, M, Tsukamoto, T, Yokoo, H, Hirose, Y & Abe, M 2019, 'An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation', Pathology International, 巻. 69, 番号 6, pp. 372-377. https://doi.org/10.1111/pin.12799

An epilepsy-associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation. / Yamada, Seiji; Nobusawa, Sumihito; Yamazaki, Tatsuya; Teranishi, Takao; Watanabe, Sadayoshi; Murayama, Kazuhiro; Ohba, Shigeo; Okabe, Asako; Sakurai, Kouhei; Urano, Makoto; Tsukamoto, Tetsuya; Yokoo, Hideaki; Hirose, Yuichi; Abe, Masato.

:: Pathology International, 巻 69, 番号 6, 01.01.2019, p. 372-377.

研究成果: Article

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AU - Yamada, Seiji

AU - Nobusawa, Sumihito

AU - Yamazaki, Tatsuya

AU - Teranishi, Takao

AU - Watanabe, Sadayoshi

AU - Murayama, Kazuhiro

AU - Ohba, Shigeo

AU - Okabe, Asako

AU - Sakurai, Kouhei

AU - Urano, Makoto

AU - Tsukamoto, Tetsuya

AU - Yokoo, Hideaki

AU - Hirose, Yuichi

AU - Abe, Masato

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low-grade gliomas. We report a case of GNT with rosette-forming glioneuronal tumor, dysembryoplastic neuroepithelial tumor, and pilocytic astrocytoma-like morphology harboring FGFR1 mutation. A 16-year-old female presented with absence seizures. Magnetic resonance imaging revealed a right temporal lobe mass with multinodular enhancement by gadolinium administration. The tumor was mostly composed of oligodendrocyte-like cells (OLCs) with variable perinuclear haloes. Abundant Rosenthal fibers and eosinophilic granular bodies were identified. Neither mitotic figures nor areas of necrosis were seen. Focal neurocytic rosette features, involving ring-like arrays of OLCs around eosinophilic cores, were observed. Direct sequencing showed a missense mutation in FGFR1 K656E, whereas FGFR1 N546K, PIK3CA, and BRAF V600E were intact. KIAA1549-BRAF fusion was not detected by fluorescence in situ hybridization analysis.

AB - Glioneuronal tumor (GNT) is a rare central nervous system neoplasm composed of glial and neuronal components. Making the specific diagnosis of GNT can be challenging due to histopathological and genetical similarities among some GNTs and low-grade gliomas. We report a case of GNT with rosette-forming glioneuronal tumor, dysembryoplastic neuroepithelial tumor, and pilocytic astrocytoma-like morphology harboring FGFR1 mutation. A 16-year-old female presented with absence seizures. Magnetic resonance imaging revealed a right temporal lobe mass with multinodular enhancement by gadolinium administration. The tumor was mostly composed of oligodendrocyte-like cells (OLCs) with variable perinuclear haloes. Abundant Rosenthal fibers and eosinophilic granular bodies were identified. Neither mitotic figures nor areas of necrosis were seen. Focal neurocytic rosette features, involving ring-like arrays of OLCs around eosinophilic cores, were observed. Direct sequencing showed a missense mutation in FGFR1 K656E, whereas FGFR1 N546K, PIK3CA, and BRAF V600E were intact. KIAA1549-BRAF fusion was not detected by fluorescence in situ hybridization analysis.

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